HECW2

Chr 2q32.3

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

Aliases:: KIAA1301, NEDL2
MANE:: ENST00000644978.2

OMIM: 617245 ↗NCBI: 57520 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HECW2 · Q9P2P5

v62025-08-01

Predicted Aligned Error matrix for HECW2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.4/ 100

Low

1,572 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)26%
Low(50–70)7%
Very low(< 50)46%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia, seizures, and absent language
0.78
hereditary disease
0.51
complex neurodevelopmental disorder
0.42
neurodegenerative disease
0.37
Abnormality of the nervous system
0.27
neurodevelopmental disorder with hypotonia and seizures
0.27
liver disorder
0.26
poisoning
0.26
generalized dystonia
0.21
hypertrophic cardiomyopathy
0.20

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase HECW2

E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370)